Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3907 | 11944;11945;11946 | chr2:178741514;178741513;178741512 | chr2:179606241;179606240;179606239 |
| N2AB | 3590 | 10993;10994;10995 | chr2:178741514;178741513;178741512 | chr2:179606241;179606240;179606239 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3544 | 10855;10856;10857 | chr2:178741514;178741513;178741512 | chr2:179606241;179606240;179606239 |
| Novex-1 | 3669 | 11230;11231;11232 | chr2:178741514;178741513;178741512 | chr2:179606241;179606240;179606239 |
| Novex-2 | 3736 | 11431;11432;11433 | chr2:178741514;178741513;178741512 | chr2:179606241;179606240;179606239 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/V | rs55853696  |
-1.646 | 0.117 | N | 0.371 | 0.134 | None | gnomAD-2.1.1 | 3.57582E-03 | None | None | None | None | N | None | 3.80736E-02 | 1.52819E-03 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 8.6E-05 | 1.82687E-03 |
| L/V | rs55853696 |
-1.646 | 0.117 | N | 0.371 | 0.134 | None | gnomAD-3.1.2 | 1.10132E-02 | None | None | None | None | N | None | 3.81514E-02 | 3.9979E-03 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 8.82E-05 | 4.1511E-04 | 1.19389E-02 |
| L/V | rs55853696 |
-1.646 | 0.117 | N | 0.371 | 0.134 | None | 1000 genomes | 1.21805E-02 | None | None | None | None | N | None | 4.39E-02 | 4.3E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| L/V | rs55853696 |
-1.646 | 0.117 | N | 0.371 | 0.134 | None | gnomAD-4.0.0 | 1.98722E-03 | None | None | None | None | N | None | 3.74893E-02 | 2.43341E-03 | None | 0 | 0 | None | 0 | 9.89772E-04 | 4.49221E-05 | 8.78426E-05 | 2.91275E-03 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9671 | likely_pathogenic | 0.9464 | pathogenic | -2.849 | Highly Destabilizing | 0.966 | D | 0.711 | prob.delet. | None | None | None | None | N |
| L/C | 0.9463 | likely_pathogenic | 0.9143 | pathogenic | -1.933 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| L/D | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -3.593 | Highly Destabilizing | 0.999 | D | 0.922 | deleterious | None | None | None | None | N |
| L/E | 0.9919 | likely_pathogenic | 0.9884 | pathogenic | -3.302 | Highly Destabilizing | 0.998 | D | 0.904 | deleterious | None | None | None | None | N |
| L/F | 0.6093 | likely_pathogenic | 0.4974 | ambiguous | -1.727 | Destabilizing | 0.995 | D | 0.857 | deleterious | None | None | None | None | N |
| L/G | 0.9923 | likely_pathogenic | 0.9869 | pathogenic | -3.417 | Highly Destabilizing | 0.998 | D | 0.911 | deleterious | None | None | None | None | N |
| L/H | 0.9785 | likely_pathogenic | 0.9629 | pathogenic | -3.048 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| L/I | 0.2065 | likely_benign | 0.1667 | benign | -1.147 | Destabilizing | 0.955 | D | 0.615 | neutral | D | 0.564300838 | None | None | N |
| L/K | 0.9787 | likely_pathogenic | 0.9692 | pathogenic | -2.263 | Highly Destabilizing | 0.998 | D | 0.909 | deleterious | None | None | None | None | N |
| L/M | 0.3914 | ambiguous | 0.322 | benign | -1.162 | Destabilizing | 0.998 | D | 0.817 | deleterious | None | None | None | None | N |
| L/N | 0.9955 | likely_pathogenic | 0.9928 | pathogenic | -2.87 | Highly Destabilizing | 0.999 | D | 0.919 | deleterious | None | None | None | None | N |
| L/P | 0.9959 | likely_pathogenic | 0.9939 | pathogenic | -1.705 | Destabilizing | 0.999 | D | 0.916 | deleterious | D | 0.763804758 | None | None | N |
| L/Q | 0.9629 | likely_pathogenic | 0.94 | pathogenic | -2.597 | Highly Destabilizing | 0.999 | D | 0.924 | deleterious | D | 0.763804758 | None | None | N |
| L/R | 0.9554 | likely_pathogenic | 0.9362 | pathogenic | -2.118 | Highly Destabilizing | 0.997 | D | 0.924 | deleterious | D | 0.705947255 | None | None | N |
| L/S | 0.992 | likely_pathogenic | 0.985 | pathogenic | -3.421 | Highly Destabilizing | 0.998 | D | 0.903 | deleterious | None | None | None | None | N |
| L/T | 0.9692 | likely_pathogenic | 0.9491 | pathogenic | -2.987 | Highly Destabilizing | 0.995 | D | 0.849 | deleterious | None | None | None | None | N |
| L/V | 0.2942 | likely_benign | 0.2263 | benign | -1.705 | Destabilizing | 0.117 | N | 0.371 | neutral | N | 0.520227068 | None | None | N |
| L/W | 0.9231 | likely_pathogenic | 0.8686 | pathogenic | -2.222 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| L/Y | 0.9584 | likely_pathogenic | 0.932 | pathogenic | -1.981 | Destabilizing | 0.998 | D | 0.888 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.